Počet záznamov: 1
Late infantile metachromatic leukodystrophy due to novel pathogenic variants in the PSAP gene
Názov Late infantile metachromatic leukodystrophy due to novel pathogenic variants in the PSAP gene Autor Kolníková Miriam Spoluautori Jungová Petra Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Foltan Tomáš Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Mattošová Slávka Zdroj.dok. Journal of Molecular Neuroscience. Vol. 67, no. 4 (2019), p. 559-563 Jazyk dok. eng - angličtina Druh dok. rozpis článkov z periodík (rbx) Ohlasy MADAAN, Priyanka - JAUHARI, Prashant - CHAKRABARTY, Biswaroop - KUMAR, Atin - GULATI, Sheffali. Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis. In NEUROPEDIATRICS. ISSN 0174-304X, 2019, vol. 50, no. 5, pp. 318-321. ALDOSARI, K.H. - AL-GHAMDI, S. - ALKHATHLAN, K.M. - ALKHALIDI, H.M. Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B. In NEUROSCIENCES. ISSN 1319-6138, JUL 2020, vol. 25, no. 3, p. 214-217. WU, S.F. - HOU, M. - ZHANG, Y. - SONG, J. - GUO, Y. - LIU, P.P. - LIU, Y.D. - YI, L.P. - PAN, X.Y. - WE, W. - CHEN, Z.B. Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene. In JOURNAL OF MOLECULAR NEUROSCIENCE. ISSN 0895-8696, FEB 2021, vol. 71, no. 2, p. 245-251. SHAIMARDANOVA, A.A. - CHULPANOVA, D.S. - SOLOVYEVA, V.V. - MULLAGULOVA, A.I. - KITAEVA, K.V. - ALLEGRUCCI, C. - RIZVANOV, A.A. Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches. In FRONTIERS IN MEDICINE. OCT 20 2020, vol. 7. ZHAO, H.D. - WU, M.L. - YI, X.H. - TANG, X.Q. - CHEN, P.B. - WANG, S.H. - SUN, X.Z. Functional Analysis of Haplotypes in Bovine PSAP Gene and Their Relationship with Beef Cattle Production Traits. In ANIMALS. ISSN 2076-2615, JAN 2021, vol. 11, no. 1. ZHAO, Y.W. - PAN, H.X. - ZENG, Q. - FANG, Z.H. - LIU, Z.H. - WANG, Y.G. - JIANG, L. - HE, R.C. - ZHOU, X. - ZHOU, Y.J. - XU, Q. - SUN, Q.Y. - LI, B. - ZHAO, G.H. - YANG, Y. - HU, Y.C. - CHEN, Y.S. - DU, J. - LEI, L.F. - ZHANG, H.N. - WANG, C.Y. - YAN, X.X. - SHEN, L. - JIANG, H. - LI, J.C. - TANG, B.S. - TAN, J.Q. - GUO, J.F. PSAP variants in Parkinson's disease: a large cohort study in Chinese mainland population. In BRAIN. ISSN 0006-8950, MAR 2021, vol. 144, 3. RODRIGUES, K.F. - YONG, W.T.L. - BHUIYAN, M.S.A. - SIDDIQUEE, S. - SHAH, M.D. - MARAN, B.A.V. Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review. In BIOLOGY-BASEL. SEP 2022, vol. 11, no. 9. Dostupné na: https://doi.org/10.3390/biology11091308. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2019 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1007/s12031-019-1259-7 
článok
rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2019 2018 2.577 Q3 0.933 Q1
Počet záznamov: 1